Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5981
Gene name Gene Name - the full gene name approved by the HGNC.
Replication factor C subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFC1
Synonyms (NCBI Gene) Gene synonyms aliases
A1, CANVAS, MHCBFB, PO-GA, RECC1, RFC, RFC140
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p14
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, bi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046779 hsa-miR-222-3p CLASH 23622248
MIRT042834 hsa-miR-324-3p CLASH 23622248
MIRT439781 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439781 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1301486 hsa-let-7a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000166 Function Nucleotide binding IEA
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0003689 Function DNA clamp loader activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
102579 9969 ENSG00000035928
Protein
UniProt ID P35251
Protein name Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C
Protein function Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA
PDB 2EBU , 2K6G , 2K7F , 6VVO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00533 BRCT 402 479 BRCA1 C Terminus (BRCT) domain Family
PF00004 AAA 647 776 ATPase family associated with various cellular activities (AAA) Domain
PF08519 RFC1 915 1068 Replication factor RFC1 C terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Wide tissue distribution. Undetectable in placental tissue.
Sequence
MDIRKFFGVIPSGKKLVSETVKKNEKTKSDEETLKAKKGIKEIKVNSSRKEDDFKQKQPS
KKKRIIYDSDSESEETLQVKNAKKPPEKLPVSSKPGKISRQDPVTYISETDEEDDFMCKK
AASKSKENGRSTNSHLGTSNMKKNEENTKTKNKPLSPIKLTPTSVLDYFGTGSVQRSNKK
MVASKRKELSQNTDESGLNDEAIAKQLQLDEDAELERQLHEDEEFARTLAMLDEEPKTKK
ARKDTEAGETFSSVQANLSKAEKHKYPHKVKTAQVSDERKSYSPRKQSKYESSKESQQHS
KSSADKIGEVSSPKASSKLAIMKRKEESSYKEIEPVASKRKENAIKLKGETKTPKKTKSS
PAKKESVSPEDSEKKRTNYQAYRSYLNREGPKALGSKEIPKGAENCLEGLIFVITGVLES
IERDEAKSLIERYGGKVTGNVSKKTNYLVMGRDSGQSKSDKAAALGTKIIDEDGLLNLI
R
TMPGKKSKYEIAVETEMKKESKLERTPQKNVQGKRKISPSKKESESKKSRPTSKRDSLAK
TIKKETDVFWKSLDFKEQVAEETSGDSKARNLADDSSENKVENLLWVDKYKPTSLKTIIG
QQGDQSCANKLLRWLRNWQKSSSEDKKHAAKFGKFSGKDDGSSFKAALLSGPPGVGKTTT
ASLVCQELGYSYVELNASDTRSKSSLKAIVAESLNNTSIKGFYSNGAASSVSTKHALIMD
EVDGMAGNEDRGGIQELIGLIKHTKIPIICMCNDRNHPKIRSLVHYCFDLRFQRPR
VEQI
KGAMMSIAFKEGLKIPPPAMNEIILGANQDIRQVLHNLSMWCARSKALTYDQAKADSHRA
KKDIKMGPFDVARKVFAAGEETAHMSLVDKSDLFFHDYSIAPLFVQENYIHVKPVAAGGD
MKKHLMLLSRAADSICDGDLVDSQIRSKQNWSLLPAQAIYASVLPGELMRGYMTQFPTFP
SWLGKHSSTGKHDRIVQDLALHMSLRTYSSKRTVNMDYLSLLRDALVQPLTSQGVDGVQD
VVALMDTYYLMKEDFENIMEISSWGGKPSPFSKLDPKVKAAFTRAYNK
EAHLTPYSLQAI
KASRHSTSPSLDSEYNEELNEDDSQSDEKDQDAIETDAMIKKKTKSSKPSKPEKDKEPRK
GKGKSSKK
Sequence length 1148
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
  Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Polymerase switching on the C-strand of the telomere
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Polymerase switching
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Asthma (adult onset) N/A N/A GWAS
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 19353223
Alopecia Associate 25599563
Amyotrophic lateral sclerosis 1 Associate 34537679
Arthritis Rheumatoid Associate 25599563
Ataxia Associate 32910249, 33495376, 33884451, 35001451, 35864213, 37578187, 38487929
Ataxia and Polyneuropathy Adult Onset Associate 35864213
Atrophy Associate 34927205
Autistic Disorder Associate 20468076
Benign Paroxysmal Positional Vertigo Associate 35502508, 38381176
Bilateral Vestibulopathy Associate 30926972, 33884451, 33969391, 35502508, 36805468, 37460231, 38381176